Huntington’s disease is a genetic disorder that affects the nervous system thereby leading to its degeneration. It impairs the coordination of the muscles leading to cognitive decline. It is asymptomatic in children and its symptoms can only be read at middle age. It is the common cause of chorea prevalent among the western Europeans, Africans, and Asians (Walker, 2009). The condition is largely necessitated by autosomal dominant mutation on human copies of genes called Huntingtin. Children born out of a relationship where one of the parents is affected has a 50-50 chance of developing the condition. The risk is enhanced in cases where the two parents have affected gene. It also occurs also when one of the parents has two affected copies. Physical symptoms of Huntington’s disease are greatly manifested when one at the ages between 35 and 44 years. Symptoms that are shown when somebody is barely 20 years old have a higher progression rate and slightly vary hence the classification of the disease as juvenile complication. This essay seeks to illuminate how testing children for Huntington’s disease would change discussion about that issue, topics that should be explored when counseling those affected by Huntington’s disease, whether the healthcare experts should consider sharing with close relatives of the victims of Huntington’s disease-especially the minors, the possibility of subjecting them to test, and the rationale of the responses given by registered nurses.
Diagnosis of Huntington’s disease is basically anchored on appearance of physical symptoms which in this case Jean’s son does not have (Paulsen, 1999). Genetic testing that Jean is basically agitating for is only conducted to confirm the observations that were made from the physical symptoms that had been exhibited in patients with a family history of Huntington’s disease. Because of the psychological implications involved, only 5 per cent of patients without physical symptoms opt to go for genetic tests to prove whether they may develop Huntington’s disease or not. Subjecting the boy to genetic test will add to nothing but just heighten the suicidal tendencies among victims and the discriminatory tendencies a positive patient would be subjected bearing that the disease has no cure. It would be quite interesting to see a child subjected to pre-symptomatic testing that is basically meant for shaping career and family decisions.
Successful counseling of Jean would involve provision of information, advice and support to help the family in initial decision making and if she otherwise feels that she must subject her son to genetic testing be able to withstand the intricacies of the testing processes.
It would very appropriate to share with Jean the intricacies involved with testing as this would help her in arriving at crucial initial decisions. This will involve sharing with her statistics on the number of people who chose to go for pre-symptomatic genetic testing, and the reasons as to why the statistics has remained so. This should cover what happens to test candidates after they have been confirmed to be positive or negative for HD. It is pertinent that Jean be told about the reason as to why genetic testing for HD is done, and to which group of people they are done to. She deserves to be told about the impact of the test result on the candidate and whether they may or may not be detrimental.
Responses given to Jean will basically be based on statistical data pertaining to pre-symptomatic genetic testing on patients suspecting to be having such a condition in their genetic make up.
Reference List
Paulsen, J.S. (1999). Understanding Behavior in Huntington’s disease. New York: Huntington’s Disease Society of America.
Walker, F. (2009). Huntington’s disease. The Lancet, 369(9557): 218-228.